ArticleAmerican journal of ophthalmology2019
Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.
Article in American journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.BMC ophthalmology · 2022Pooled it
- Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- Independent Degeneration of Photoreceptors and Retinal Pigment Epithelium: Multimodal Imaging Evidence From Choroideremia Carriers.Investigative ophthalmology & visual science · 2026Article
- Longitudinal and cross-sectional study of retinal phenotypes and visual function in choroideremia carriers: a new grading system.Eye and vision (London, England) · 2026Article
- Review
- Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.Journal of Korean medical science · 2025Article
- Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.The British journal of ophthalmology · 2025Article
- Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study.American journal of ophthalmology · 2025Article
- FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.Retina (Philadelphia, Pa.) · 2024Article
- Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.International journal of molecular sciences · 2023Article
- Clinical and Genetic Findings in Korean Patients with Choroideremia.Korean journal of ophthalmology : KJO · 2023Article
- Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.Cold Spring Harbor perspectives in medicine · 2023Article
- Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.Communications biology · 2022Article
- Article
- Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation ofGenes · 2021Article
- Choroidal Vascularity Index in CHM Carriers.Frontiers in ophthalmology · 2021Article
- Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?Expert opinion on orphan drugs · 2021Article
- US Health Resource Utilization and Cost Burden Associated with Choroideremia.Clinical ophthalmology (Auckland, N.Z.) · 2021Article
- A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo characterize and bring awareness to the disease spectrum of female choroideremia patients, as severity can vary from mild to severe disease, comparable to that observed in male patients.
designRetrospective cohort study.
methodsTwelve female carriers of disease-causing variants in the CHM gene confirmed by molecular genetic sequencing were characterized clinically and imaged with short-wave fundus autofluorescence (SW-FAF), spectral-domain optical coherence tomography (OCT), and color fundus imaging.
resultsTwelve unrelated female patients with a clinical and genetic diagnosis of choroideremia carriers were included in this study. Disease severity among these phenotypes ranged from mild to severe, resembling the typical presentation of choroideremia in male patients. Mild disease presented with retinal pigment epithelium mottling, a patchy pattern of hypoautofluorescent speckles on SW-FAF, and intact retinal layers on spectral-domain OCT. Severe disease presented with widespread chorioretinal atrophy as shown by SW-FAF and spectral-domain OCT. Each of the identified genetic variants in CHM was predicted to be disease-causing according to in silico prediction software. Disease progression analysis of 4 patients with follow-up showed a decline in visual acuity for 2 patients, with progression observed on spectral-domain OCT in 1 of the patients. No significant disease progression on SW-FAF was observed for any of the patients.
conclusionsFemale carriers of choroideremia can present with a wide range of clinical phenotypes and disease severity, from mild to severe disease, similar to male subjects. Symptomatic female subjects should be considered for current and upcoming gene replacement therapy clinical trials.
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